Jeffrey W. Innis

Medical Genetics | Pediatrics

1500 E Medical Center Dr
Ann Arbor, MI 48109

Last Updated: 09/26/2026

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Found 40 publications

Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.

Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.

Journal: American journal of medical genetics. Part A

Published: April 29, 2026

Personal journeys to and in human genetics and dysmorphology.

Personal journeys to and in human genetics and dysmorphology.

Journal: American journal of medical genetics. Part A

Published: November 05, 2023

Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic.

Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic.

Journal: Genes

Published: February 20, 2023

A Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification.

A Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification.

Journal: Genes

Published: February 13, 2023

Metreleptin therapy for nonalcoholic steatohepatitis: Open-label therapy interventions in two different clinical settings.

Metreleptin therapy for nonalcoholic steatohepatitis: Open-label therapy interventions in two different clinical settings.

Journal: Med (New York, N.Y.)

Published: March 16, 2022

AHDC1 missense mutations in Xia-Gibbs syndrome.

AHDC1 missense mutations in Xia-Gibbs syndrome.

Journal: HGG advances

Published: December 24, 2021

Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability.

Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability.

Journal: American journal of medical genetics. Part A

Published: December 10, 2021

Cardiac phenotype in familial partial lipodystrophy.

Cardiac phenotype in familial partial lipodystrophy.

Journal: Clinical endocrinology

Published: October 06, 2020

The SRG rat, a Sprague-Dawley Rag2/Il2rg double-knockout validated for human tumor oncology studies.

The SRG rat, a Sprague-Dawley Rag2/Il2rg double-knockout validated for human tumor oncology studies.

Journal: PloS one

Published: July 06, 2020

Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes.

Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes.

Journal: Scientific reports

Published: June 24, 2020

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.

Journal: Science advances

Published: May 21, 2020

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: November 13, 2019

Showing 1-12 of 40

Last Updated: 09/26/2026